生物标志物 生物标志物
Maurice Pasternak1, Saira S Mirza1, Andrew D Paterson2
1Hurvitz Brain Sciences Program, Sunnybrook Research Institute, Toronto, ON, Canada.
Alzheimer's & dementia : the journal of the Alzheimer's Association
|December 25, 2025
概括
保护性TMEM106B-rs1990622变体减缓了遗传前叶退化-Tar DNA结合蛋白-43 (FTLD-TDP) 变异器中的疾病进展. 这种变异降低了NfL水平,大脑缩和认知衰退,表明了治疗潜力.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 遗传学 是一个
- 神经学 神经学
背景情况:
- 一种常见的TMEM106B变体 (rs1990622) 与前叶退化-Tar DNA结合蛋白-43 (FTLD-TDP) 的风险有关.
- TMEM106B-rs1990622的小等位基因G通过降低NfL水平,大脑缩和认知衰退来保护症状突变携带者.
- 这种变异在转换者 (在变异携带者之后表现出疾病症状的个体) 中的保护作用以前是未知的.
研究的目的:
- 调查TMEM106B-rs1990622变异对遗传FTD变异器疾病进展的影响.
- 确定保护性基因组G是否影响NfL水平,大脑缩和已转化为症状表型的个体的认知衰退.
主要方法:
- 研究了来自GENetic Frontotemporal Dementia Initiative (GENFI) 的518名参与者,其中包括21名表态转换器.
- 使用混合效应模型分析了TMEM106B-rs1990622基因型和转换器状态之间的相互作用.
- 测量了血清NfL水平,认知功能 (MMSE,注意力,处理速度,执行功能,语言,CBI) 和大脑体积 (MRI).
主要成果:
- 在转换器中,保护性等位基因G显著降低了血清NfL积累率 (p < 10-8).
- 保护性基因的携带者在前轨区域和岛内皮层中表现出较慢的缩率.
- 认知衰退在多个领域显著减缓,包括一般认知,注意力,处理速度,执行功能,语言和行为症状 (所有p < 0.01).
结论:
- 保护性变体TMEM106B-rs1990622显著影响FTD基因变异器中的疾病进展.
- 该变种影响NfL水平,大脑缩和认知衰退,这表明存在广泛的保护机制.
- 这种变种有可能成为FTD的治疗点.
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